Bonduelle M, Wilikens A, Buysse A, Van Assche E, Wisanto A, Devroey P, Van Steirteghem A C, Liebaers I
Centre for Medical Genetics, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Belgium.
Hum Reprod. 1996 Dec;11 Suppl 4:131-55; discussion 156-9. doi: 10.1093/humrep/11.suppl_4.131.
A prospective follow-up study of 877 children born after ICSI was carried out. The aim of this study was to compile data on karyotypes, congenital malformations, growth parameters and developmental milestones so as to evaluate the safety of this new technique. The follow-up study included agreement to genetic counselling and prenatal diagnosis and was based on a physical examination at the Centre for Medical Genetics (Dutch-speaking Brussels Free University, Brussels, Belgium) at 2 months, 1 year and 2 years, when major and minor malformations and a psychomotor evolution were recorded. Between April 1991 and July 1995, 904 pregnancies obtained after intracytoplasmic sperm injection (ICSI) led to the birth of 877 children (465 singletons, 379 twins and 33 triplets). Prenatal diagnosis determined a total of 486 karyotypes, of which six were abnormal (1.2%) and six (1.2%) were familial structural aberrations, all transmitted from the father. This slight increase in de-novo chromosomal aberrations and the higher frequency of transmitted chromosomal aberrations are probably linked directly to the characteristics of the infertile men treated rather than to the ICSI procedure itself. In all, 23 (2.6%) major malformations were observed in the children born, defined as those causing functional impairment or requiring surgical correction. No particular malformation was disproportionately frequent. Compared with most registers of children born after assisted reproduction and with registers of malformation in the general population, the figure of 2.6% was within the expected range. These observations should be further completed by others and by collaborative efforts. In the meantime, patiens should be counselled about the available data before any treatment: the risk of transmitted chromosomal aberrations, the risk of de-novo, mainly sex chromosomal, aberrations and the risk of transmitting fertility problems to the offspring. Patients should also be reassured that there seems to be no higher incidence of congenital malformations in children born after ICSI.
对877例通过卵胞浆内单精子注射（ICSI）出生的儿童进行了一项前瞻性随访研究。本研究的目的是收集有关核型、先天性畸形、生长参数和发育里程碑的数据，以评估这项新技术的安全性。随访研究包括同意接受遗传咨询和产前诊断，并基于在医学遗传学中心（比利时布鲁塞尔说法语的布鲁塞尔自由大学）进行的2个月、1岁和2岁时的体格检查，记录主要和次要畸形以及精神运动发育情况。1991年4月至1995年7月期间，904例经卵胞浆内单精子注射（ICSI）后的妊娠分娩出877名儿童（465名单胎、379对双胞胎和33名三胞胎）。产前诊断共确定了486种核型，其中6种异常（1.2%），6种（1.2%）为家族性结构畸变，均由父亲遗传。新发染色体畸变的轻微增加和遗传染色体畸变的较高频率可能直接与接受治疗的不育男性的特征有关，而非与ICSI操作本身有关。在出生的儿童中，共观察到23例（2.6%）主要畸形，定义为导致功能障碍或需要手术矫正的畸形。没有哪种特定畸形的发生率过高。与大多数辅助生殖后出生儿童的登记数据以及普通人群的畸形登记数据相比，2.6%的数字在预期范围内。这些观察结果应由其他研究人员并通过合作努力进一步完善。与此同时，在进行任何治疗之前，应向患者提供现有数据的咨询：遗传染色体畸变的风险、新发主要是性染色体畸变的风险以及将生育问题遗传给后代的风险。还应让患者放心，经ICSI出生的儿童先天性畸形的发生率似乎并没有更高。
